Clinical Metabolomics Applications in Genetic Diseases

Chapter 1. The advanced technology and clinical application in metabolomics.- Chapter 2. Mass Spectrometry-Based Metabolomics for the Clinical Laboratory.- Chapter 3. Metabolomics: a pipeline for biomarker discovery in genetic diseases.- Chapter 4. Bioinformatics Tools for Clinical Metabolomics.- Chapter 5. Untargeted Metabolomics in Newborn Screening.- Chapter 6. Untargeted Metabolomics, Targeted Care: The Clinical Utilities of Bedside Metabolomics.- Chapter 7. Metabolomics in the Study of Human Mitochondrial Diseases.- Chapter 8. Metabolomics of Rare endocrine, genetic disease- A focus on the Pituitary gland.- Chapter 9. Metabolomics and genetics of rare endocrine disease - adrenal, parathyroid glands, and cystic fibrosis.- Chapter 10. Metabolomics role in personalized medicine: An update.- Chapter 11. Lipidomic Profiling in Clinical Practice Using LC-MS.- Chapter 12. Bringing Human Serum Lipidomics to the Forefront of Clinical Practice: Two Clinical Diagnosis Success Stories.- Chapter 13. LC-MS based population metabolomics: a mini-review of recent studies and challenges from sample collection to data processing.- Chapter 14. Metabolomics and transcriptomics approach to understand the pathophysiology of interstitial lung disease.- Chapter 15. Transferring metabolomics to portable diagnostic devices- Trending in biosensors.

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• Metabolismo
• Ciência da Computação
• Genética médica
• Doenças e desvios
• Medicina: temas gerais
• Biologia, ciências da vida
• Bioquímica

Proteomics;Genomics;Transcriptomics;Integrated multi-omics;Personalized medicine;Biomarker discovery;Clinical Chemistry;Biochemical Genetics